Table 2.
Clinical features of ichthyosis-hypotrichosis syndrome with associated mutations in ST14
| Mutation | c.3G > A | c.598 + 1G > A | c.1444G > A (p.D482N) |
c.1558G > C (p.E520Q) |
c.2034delG (p.L678Ffs*84) |
c.2269 + 1G > A | c.24791G > A (p.G827R) |
|---|---|---|---|---|---|---|---|
| Mutation type | Start codon | Splice site | Missense | Missense | Frameshift | Splice site | Missense |
| Reference | [7] | [8] | Current report | [4] | [6] | [6] | [5] |
| Description of ichthyosis | Generalized scaling, sparing flexures | Generalized erythema and scaling, later localized to back | Fine white generalized scale | Fine gray scale sparing elbows and knees | Generalized scaling, sparing flexures and face | Generalized scaling, sparing elbows, knees, and face | Gray to brown generalized scaling, sparing face |
| Description of hypotrichosis | Light brown, coarse, curly scalp hair, generalized sparse hair including eyebrows, eyelashes | Light brown, receding frontal hairline, partial loss of eyebrows, curled eyelashes | Light brown, coarse scalp hair, recession of frontal hairline, generalized sparse hair | Coarse scalp hair, generalized sparse hair including eyebrows and eyelashes | Light brown, woolly hair, recession of frontal hairline | Sparse scalp, eyebrow, and body hair, with recession of frontal hairline | Curly, light. Sparse, generalized hair |
| Palmoplantar keratoderma | – | + | – | – | – | – | – |
| Ocular anomalies | Blepharitis | – | – | – | – | Pinguecula, corneal opacities | Corneal opacities |
| Dental anomalies | – | – | – | Conical teeth, pitting | – | – | Conical teeth, pitting |
| Follicular atrophoderma | – | – | + | + | + | + | – |
| Hypohidrosis | – | – | – | – | + | + | – |